Canonical Allele Identifier: CA12317893
Gene: KIAA0319 HGNC NCBI

Linked Data

dbSNP Id: rs761100

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24632414A>C , CM000668.2:g.24632414A>C GRCh38
NC_000006.11:g.24632642A>C , CM000668.1:g.24632642A>C GRCh37
NC_000006.10:g.24740621A>C NCBI36
NG_016206.1:g.18742T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378214.8:c.-106+13322T>G MANE Select ENSP00000367459.3:p.=
ENST00000378214.7:c.-106+13322T>G ENSP00000367459.3:p.=
ENST00000430948.6:c.-81+13213T>G ENSP00000401086.2:p.=
ENST00000535378.5:c.-224+13322T>G ENSP00000442403.1:p.=
ENST00000537886.5:c.-106+13322T>G ENSP00000439700.1:p.=
ENST00000543707.2:c.-106+13322T>G ENSP00000437656.1:p.=
NM_001168374.1:c.-224+13322T>G NP_001161846.1:p.=
NM_001168375.1:c.-106+13213T>G NP_001161847.1:p.=
NM_001168376.1:c.-81+13213T>G NP_001161848.1:p.=
NM_001168377.1:c.-106+13322T>G NP_001161849.1:p.=
NM_014809.3:c.-106+13322T>G NP_055624.2:p.=
XM_011515022.1:c.-106+13213T>G XP_011513324.1:p.=
XM_011515023.1:c.-106+13322T>G XP_011513325.1:p.=
XM_011515024.1:c.-106+13621T>G XP_011513326.1:p.=
XM_011515025.1:c.-106+13621T>G XP_011513327.1:p.=
NM_001350403.1:c.-106+13621T>G NP_001337332.1:p.=
NM_001350404.1:c.37+13322T>G NP_001337333.1:p.=
NM_001350405.1:c.-106+13213T>G NP_001337334.1:p.=
NM_001350406.1:c.-81+13621T>G NP_001337335.1:p.=
NM_001350407.1:c.-106+13621T>G NP_001337336.1:p.=
NM_001350408.1:c.-106+13322T>G NP_001337337.1:p.=
NM_001350409.1:c.-366+13621T>G NP_001337338.1:p.=
NM_001350410.1:c.-366+13322T>G NP_001337339.1:p.=
XM_017011541.1:c.-224+13213T>G XP_016867030.1:p.=
XM_017011542.2:c.-106+13213T>G XP_016867031.1:p.=
XM_017011544.1:c.-106+13322T>G XP_016867033.1:p.=
XM_017011546.2:c.-106+13213T>G XP_016867035.1:p.=
XM_017011547.1:c.-106+13213T>G XP_016867036.1:p.=
XM_017011550.1:c.-106+13213T>G XP_016867039.1:p.=
XM_017011551.1:c.-106+13213T>G XP_016867040.1:p.=
XR_001743779.1:n.138+13213T>G
XR_001743780.1:n.138+13213T>G
NM_014809.4:c.-106+13322T>G MANE Select NP_055624.2:p.=
NM_001168375.2:c.-106+13213T>G NP_001161847.1:p.=
NM_001350403.2:c.-106+13621T>G NP_001337332.1:p.=
NM_001350404.2:c.37+13322T>G NP_001337333.1:p.=
NM_001350405.2:c.-106+13213T>G NP_001337334.1:p.=
NM_001350406.2:c.-81+13621T>G NP_001337335.1:p.=
NM_001350407.2:c.-106+13621T>G NP_001337336.1:p.=
NM_001350408.2:c.-106+13322T>G NP_001337337.1:p.=
NM_001350409.2:c.-366+13621T>G NP_001337338.1:p.=
NM_001350410.2:c.-366+13322T>G NP_001337339.1:p.=
NM_001168374.2:c.-224+13322T>G NP_001161846.1:p.=
NM_001168376.2:c.-81+13213T>G NP_001161848.1:p.=
NM_001168377.2:c.-106+13322T>G NP_001161849.1:p.=